CMO-2 DEFICIENCY
MCID: CRT040
MIFTS: 23

Corticosterone Methyloxidase Type Ii Deficiency (CMO-2 DEFICIENCY)

Categories: Genetic diseases

Aliases & Classifications for Corticosterone Methyloxidase Type Ii Deficiency

MalaCards integrated aliases for Corticosterone Methyloxidase Type Ii Deficiency:

Name: Corticosterone Methyloxidase Type Ii Deficiency 58
Corticosterone Methyloxidase Type 2 Deficiency 30 6 41
Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency 58 13
Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase 58
Hyperreninemic Hypoaldosteronism, Familial, 1; Fhha1b 58
Corticosterone Methyl Oxidase Type Ii Deficiency 74
Corticosterone Methyl Oxidase Type I Deficiency 74
Hyperreninemic Hypoaldosteronism, Familial, 1 58
Corticosterone Methyloxidase 2 Deficiency 76
Steroid 18-Oxidase Deficiency 58
Aldosterone Deficiency Ii 58
18-Oxidase Deficiency 58
Cmo Ii Deficiency 58
Cmo-2 Deficiency 76
Fhha1b 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in neonatal period
infants may have acute life-threatening crises
symptoms ameliorate with age
adults may be asymptomatic
increased frequency among jewish iranian individuals from isfahan
allelic disorder to corticosterone methyloxidase type i deficiency


HPO:

33
corticosterone methyloxidase type ii deficiency:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Corticosterone Methyloxidase Type Ii Deficiency

OMIM : 58 CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998). (610600)

MalaCards based summary : Corticosterone Methyloxidase Type Ii Deficiency, also known as corticosterone methyloxidase type 2 deficiency, is related to corticosterone methyloxidase deficiency and corticosterone methyloxidase type i deficiency, and has symptoms including vomiting An important gene associated with Corticosterone Methyloxidase Type Ii Deficiency is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2). Related phenotypes are failure to thrive and dehydration

UniProtKB/Swiss-Prot : 76 Corticosterone methyloxidase 2 deficiency: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum.

Related Diseases for Corticosterone Methyloxidase Type Ii Deficiency

Diseases related to Corticosterone Methyloxidase Type Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase deficiency 11.6
2 corticosterone methyloxidase type i deficiency 11.6

Symptoms & Phenotypes for Corticosterone Methyloxidase Type Ii Deficiency

Human phenotypes related to Corticosterone Methyloxidase Type Ii Deficiency:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 dehydration 33 HP:0001944
3 growth delay 33 HP:0001510
4 hyponatremia 33 HP:0002902
5 renal salt wasting 33 HP:0000127
6 increased circulating renin level 33 HP:0000848
7 hyperkalemia 33 HP:0002153
8 decreased circulating aldosterone level 33 HP:0004319
9 orthostatic hypotension 33 HP:0001278

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
growth retardation

Laboratory Abnormalities:
hyponatremia
hyperkalemia
decreased serum aldosterone
increased serum renin
increased serum 18-hydroxycorticosterone (18-ohb)
more
Genitourinary Kidneys:
salt wasting

Metabolic Features:
dehydration

Endocrine Features:
hypoaldosteronism

Cardiovascular Vascular:
postural hypotension

Clinical features from OMIM:

610600

UMLS symptoms related to Corticosterone Methyloxidase Type Ii Deficiency:


vomiting

Drugs & Therapeutics for Corticosterone Methyloxidase Type Ii Deficiency

Search Clinical Trials , NIH Clinical Center for Corticosterone Methyloxidase Type Ii Deficiency

Genetic Tests for Corticosterone Methyloxidase Type Ii Deficiency

Genetic tests related to Corticosterone Methyloxidase Type Ii Deficiency:

# Genetic test Affiliating Genes
1 Corticosterone Methyloxidase Type 2 Deficiency 30 CYP11B2

Anatomical Context for Corticosterone Methyloxidase Type Ii Deficiency

Publications for Corticosterone Methyloxidase Type Ii Deficiency

Articles related to Corticosterone Methyloxidase Type Ii Deficiency:

# Title Authors Year
1
Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. ( 2044581 )
1991

Variations for Corticosterone Methyloxidase Type Ii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Corticosterone Methyloxidase Type Ii Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 CYP11B2 p.Arg181Trp VAR_001267 rs28931609
2 CYP11B2 p.Glu198Asp VAR_001268 rs104894072
3 CYP11B2 p.Val386Ala VAR_001269 rs61757294
4 CYP11B2 p.Thr185Ile VAR_018471 rs121912978
5 CYP11B2 p.Thr498Ala VAR_018473 rs72554626

ClinVar genetic disease variations for Corticosterone Methyloxidase Type Ii Deficiency:

6 (show top 50) (show all 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B2 NM_000498.3(CYP11B2): c.541C> T (p.Arg181Trp) single nucleotide variant no interpretation for the single variant rs28931609 GRCh37 Chromosome 8, 143996516: 143996516
2 CYP11B2 NM_000498.3(CYP11B2): c.541C> T (p.Arg181Trp) single nucleotide variant no interpretation for the single variant rs28931609 GRCh38 Chromosome 8, 142915100: 142915100
3 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh37 Chromosome 8, 143994266: 143994266
4 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh38 Chromosome 8, 142912850: 142912850
5 CYP11B2 NM_000498.3(CYP11B2): c.554C> T (p.Thr185Ile) single nucleotide variant Pathogenic rs121912978 GRCh37 Chromosome 8, 143996503: 143996503
6 CYP11B2 NM_000498.3(CYP11B2): c.554C> T (p.Thr185Ile) single nucleotide variant Pathogenic rs121912978 GRCh38 Chromosome 8, 142915087: 142915087
7 CYP11B2 NM_000498.3(CYP11B2): c.1492A> G (p.Thr498Ala) single nucleotide variant Pathogenic rs72554626 GRCh37 Chromosome 8, 143993416: 143993416
8 CYP11B2 NM_000498.3(CYP11B2): c.1492A> G (p.Thr498Ala) single nucleotide variant Pathogenic rs72554626 GRCh38 Chromosome 8, 142912000: 142912000
9 CYP11B2 NM_000498.3(CYP11B2): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs121912979 GRCh37 Chromosome 8, 143995820: 143995820
10 CYP11B2 NM_000498.3(CYP11B2): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs121912979 GRCh38 Chromosome 8, 142914404: 142914404
11 CYP11B2 NM_000498.3(CYP11B2): c.*1047C> T single nucleotide variant Uncertain significance rs886062739 GRCh37 Chromosome 8, 143992349: 143992349
12 CYP11B2 NM_000498.3(CYP11B2): c.*1047C> T single nucleotide variant Uncertain significance rs886062739 GRCh38 Chromosome 8, 142910933: 142910933
13 CYP11B2 NM_000498.3(CYP11B2): c.*746G> A single nucleotide variant Likely benign rs570202161 GRCh37 Chromosome 8, 143992650: 143992650
14 CYP11B2 NM_000498.3(CYP11B2): c.*746G> A single nucleotide variant Likely benign rs570202161 GRCh38 Chromosome 8, 142911234: 142911234
15 CYP11B2 NM_000498.3(CYP11B2): c.*566C> T single nucleotide variant Likely benign rs375938097 GRCh38 Chromosome 8, 142911414: 142911414
16 CYP11B2 NM_000498.3(CYP11B2): c.*566C> T single nucleotide variant Likely benign rs375938097 GRCh37 Chromosome 8, 143992830: 143992830
17 CYP11B2 NM_000498.3(CYP11B2): c.*239T> C single nucleotide variant Benign rs9297975 GRCh38 Chromosome 8, 142911741: 142911741
18 CYP11B2 NM_000498.3(CYP11B2): c.*239T> C single nucleotide variant Benign rs9297975 GRCh37 Chromosome 8, 143993157: 143993157
19 CYP11B2 NM_000498.3(CYP11B2): c.*81G> A single nucleotide variant Benign rs3097 GRCh37 Chromosome 8, 143993315: 143993315
20 CYP11B2 NM_000498.3(CYP11B2): c.*81G> A single nucleotide variant Benign rs3097 GRCh38 Chromosome 8, 142911899: 142911899
21 CYP11B2 NM_000498.3(CYP11B2): c.1170G> A (p.Leu390=) single nucleotide variant Benign rs5313 GRCh38 Chromosome 8, 142912837: 142912837
22 CYP11B2 NM_000498.3(CYP11B2): c.1170G> A (p.Leu390=) single nucleotide variant Benign rs5313 GRCh37 Chromosome 8, 143994253: 143994253
23 CYP11B2 NM_000498.3(CYP11B2): c.1144T> C (p.Leu382=) single nucleotide variant Likely benign rs61757295 GRCh38 Chromosome 8, 142912863: 142912863
24 CYP11B2 NM_000498.3(CYP11B2): c.1144T> C (p.Leu382=) single nucleotide variant Likely benign rs61757295 GRCh37 Chromosome 8, 143994279: 143994279
25 CYP11B2 NM_000498.3(CYP11B2): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance rs373369254 GRCh37 Chromosome 8, 143994816: 143994816
26 CYP11B2 NM_000498.3(CYP11B2): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance rs373369254 GRCh38 Chromosome 8, 142913400: 142913400
27 CYP11B2 NM_000498.3(CYP11B2): c.959C> T (p.Ala320Val) single nucleotide variant Likely benign rs201830462 GRCh37 Chromosome 8, 143994863: 143994863
28 CYP11B2 NM_000498.3(CYP11B2): c.959C> T (p.Ala320Val) single nucleotide variant Likely benign rs201830462 GRCh38 Chromosome 8, 142913447: 142913447
29 CYP11B2 NM_000498.3(CYP11B2): c.891G> A (p.Ala297=) single nucleotide variant Benign rs4543 GRCh37 Chromosome 8, 143995743: 143995743
30 CYP11B2 NM_000498.3(CYP11B2): c.891G> A (p.Ala297=) single nucleotide variant Benign rs4543 GRCh38 Chromosome 8, 142914327: 142914327
31 CYP11B2 NM_000498.3(CYP11B2): c.842A> G (p.Asn281Ser) single nucleotide variant Likely benign rs4537 GRCh37 Chromosome 8, 143995792: 143995792
32 CYP11B2 NM_000498.3(CYP11B2): c.842A> G (p.Asn281Ser) single nucleotide variant Likely benign rs4537 GRCh38 Chromosome 8, 142914376: 142914376
33 CYP11B2 NM_000498.3(CYP11B2): c.800-14T> C single nucleotide variant Uncertain significance rs563246146 GRCh37 Chromosome 8, 143995848: 143995848
34 CYP11B2 NM_000498.3(CYP11B2): c.800-14T> C single nucleotide variant Uncertain significance rs563246146 GRCh38 Chromosome 8, 142914432: 142914432
35 CYP11B2 NM_000498.3(CYP11B2): c.752A> G (p.Lys251Arg) single nucleotide variant Likely benign rs752962897 GRCh37 Chromosome 8, 143996168: 143996168
36 CYP11B2 NM_000498.3(CYP11B2): c.752A> G (p.Lys251Arg) single nucleotide variant Likely benign rs752962897 GRCh38 Chromosome 8, 142914752: 142914752
37 CYP11B2 NM_000498.3(CYP11B2): c.674A> G (p.His225Arg) single nucleotide variant Uncertain significance rs144140791 GRCh37 Chromosome 8, 143996246: 143996246
38 CYP11B2 NM_000498.3(CYP11B2): c.674A> G (p.His225Arg) single nucleotide variant Uncertain significance rs144140791 GRCh38 Chromosome 8, 142914830: 142914830
39 CYP11B2 NM_000498.3(CYP11B2): c.640C> G (p.His214Asp) single nucleotide variant Likely benign rs551933154 GRCh37 Chromosome 8, 143996280: 143996280
40 CYP11B2 NM_000498.3(CYP11B2): c.640C> G (p.His214Asp) single nucleotide variant Likely benign rs551933154 GRCh38 Chromosome 8, 142914864: 142914864
41 CYP11B2 NM_000498.3(CYP11B2): c.606A> G (p.Leu202=) single nucleotide variant Likely benign rs113284476 GRCh37 Chromosome 8, 143996314: 143996314
42 CYP11B2 NM_000498.3(CYP11B2): c.606A> G (p.Leu202=) single nucleotide variant Likely benign rs113284476 GRCh38 Chromosome 8, 142914898: 142914898
43 CYP11B2 NM_000498.3(CYP11B2): c.595+15G> T single nucleotide variant Uncertain significance rs886062743 GRCh37 Chromosome 8, 143996447: 143996447
44 CYP11B2 NM_000498.3(CYP11B2): c.595+15G> T single nucleotide variant Uncertain significance rs886062743 GRCh38 Chromosome 8, 142915031: 142915031
45 CYP11B2 NM_000498.3(CYP11B2): c.591A> G (p.Ile197Met) single nucleotide variant Uncertain significance rs886062744 GRCh37 Chromosome 8, 143996466: 143996466
46 CYP11B2 NM_000498.3(CYP11B2): c.591A> G (p.Ile197Met) single nucleotide variant Uncertain significance rs886062744 GRCh38 Chromosome 8, 142915050: 142915050
47 CYP11B2 NM_000498.3(CYP11B2): c.504C> T (p.Phe168=) single nucleotide variant Benign rs4546 GRCh37 Chromosome 8, 143996553: 143996553
48 CYP11B2 NM_000498.3(CYP11B2): c.504C> T (p.Phe168=) single nucleotide variant Benign rs4546 GRCh38 Chromosome 8, 142915137: 142915137
49 CYP11B2 NM_000498.3(CYP11B2): c.476C> T (p.Pro159Leu) single nucleotide variant Likely benign rs563073392 GRCh37 Chromosome 8, 143996581: 143996581
50 CYP11B2 NM_000498.3(CYP11B2): c.476C> T (p.Pro159Leu) single nucleotide variant Likely benign rs563073392 GRCh38 Chromosome 8, 142915165: 142915165

Expression for Corticosterone Methyloxidase Type Ii Deficiency

Search GEO for disease gene expression data for Corticosterone Methyloxidase Type Ii Deficiency.

Pathways for Corticosterone Methyloxidase Type Ii Deficiency

GO Terms for Corticosterone Methyloxidase Type Ii Deficiency

Sources for Corticosterone Methyloxidase Type Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....